(Q40159820)

18 September 2017

title

Myocilin allele-specific glaucoma phenotype database (English)

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18 September 2017

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2

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18 September 2017

1

Alex W Hewitt

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18 September 2017

3

Jamie E Craig

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18 September 2017

publication date

1 February 2008

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18 September 2017

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18 September 2017

volume

29

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18 September 2017

issue

2

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18 September 2017

page(s)

207-211

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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

18 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Multiple sequence alignment with the Clustal series of programs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

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https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20634

1 reference

7 January 2021

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Amino acid substitution matrices from protein blocks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Complex genetics of complex traits: the case of primary open-angle glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

The optic nerve head in myocilin glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

The number of people with glaucoma worldwide in 2010 and 2020

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Identification of a gene that causes primary open angle glaucoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Myocilin and glaucoma: facts and ideas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20634

7 January 2021

Identifiers

DOI

10.1002/HUMU.20634

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18 September 2017

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